The new tests of non-invasive prenatal diagnosis (NIPD)


In August the marketing of new tests of non-invasive prenatal diagnosis (NIPD) burst into the European mass media. The observers waiting for this evolution for a long time have been surprised by the offensive, and associations felt aggressed by the disabled people rejection message implicit in these genetic tests. These are based on a new technique, allowing by a simple blood test to pregnant women to detect if the foetus has trisomy. They would allow replacing the invasive techniques such as amniocentesis or biopsy of chorial villosities, indispensable for the current prenatal diagnosis of Down syndrome (T21), but generating miscarriages (between 1 and 2%).

 

Firstly, the technique…

 

NIPD tests result from the improvement of high-throughput screening associated techniques of DNA sequences of human genome and amplification of targeted genes. This discovery goes back to 1997 when Pr. Dennis Lo (University of Hong-Kong) emphasized that the blood of pregnant woman had foetal DNA strands. In 2005, Pr. Lo assigned the patents protecting this discovery to the Californian laboratory Sequenom. After having proposed to the medical community NIPD allowing particularly the characterization of foetal gender, clinical studies have been carried out for indications of non-invasive prenatal diagnosis of Trisomy 13, 18 and 21.

 

…and then the commercial exploitation

 

Several American companies have already passed the steps of clinical studies of NIPD and propose tests on the American market in a competitive context resulting in a regular and quick price reduction. The most important market concerns T21. This rush to the market of NIPD for T21, evaluated at around $1 billion per year, gives rise to an intense legal battle around challenges of industrial property. As the American administration (FDA) has not yet validated the use of these tests, which could be the case in 2013, there is no high protest of civil society and the tests are not reimbursed. However, they are authorized in some States and a lot of private insurances refund them. This way, Sequenom proposes since the autumn 2011 a NIPD 10 weeks, the MaterniT21. Its cost, $1,800, is reduced to $250 in case of refunding by a private insurance. This offer tends to be the reference of the market.

In Europe, the German laboratory Life-Codexx launched the marketing of the product of Sequenom named Prenatest (NIPD 12 weeks) in Germany, Austria, Switzerland and Liechtenstein in August 2012. This launching is continuation to a validated clinical study which concerned over 500 patients.

In these countries, political, associative leaders and physicians have protested. Then, Hubert Hüppe, defender of disabled people’s rights in Germany, reminded that the new test does not have any medical or therapeutic purpose but on the contrary aims at “almost exclusively selecting people with Down Syndrome”. Dr Ariane Giacobino specialist in genetic in Geneva thinks similarly: “there is no doubt this test raises the question of a reduction of the birth rate of Down syndrome babies. »

 

France hones its strategy

 

In France, two actors bustle about authorizing the marketing of a new NIPD test for trisomy.  Pr. Yves Ville, obstetrician-gynaecologist at Necker Hospital, has just started a study on 3,000 patients after a 1st comparative clinical validation with classical methods of prenatal diagnosis (PND) for trisomy. The results of this study which will be the prerequisite to an authorization of routine exploitation, will be announced in the coming months. A price is considered around €400 (current cost of an amniocentesis). The French laboratory of medical biology CERBA would also launched a validation clinical study and announces a new test by the end of the year.

The cost of the test is a big part of the debate. With the health culture existing in France it seems difficult to do the same thing than Germany where the marketing has been accepted without refunding. This does not correspond to the French-style culture of risk and solidarity. If there is a new test, it will be proposed on an equal basis. The price of the dispositive is at the heart of the challenges. The choices of the authorities could be tactical: in a 1st time authorizing the new test to all pregnant women detected to be at risk by the current combined screening (serum markers and echography), and not to all pregnant women. Indeed, in a 1st time, it is more difficult to accept the test for replacing the amniocentesis and its iatrogenic effects (miscarriages).

In addition to improve and prove the efficiency of the test (which generates false positives), making it accept by the opinion seems then the 2nd preoccupation of French public authorities. If the operation is confirmed, will it be efficient?

 

A "silent and undetectable" eugenics

 

Because the “price to pay” is not only a financial matter, the challenge is first on an ethical plan. The National Ethics Advisory Committee seized from September, planned a report by the end of December. Will it know to free itself from its opinion No.107 (2009) advocating the extension of the preimplantation diagnosis to detect the T21? Will it accept to place the debate where it should have been placed, at the end of the 90’s when raised the question to organize the generalization of the NPD for trisomy and that inherent of eugenics drifts?

The “performance indicators” of the current French dispositive (96% of trisomic detected foetuses are aborted) and the requirement of a new generation of pregnancy professionals1 will they be considered when the new sequence which opens could be considered as a “resit”?

In an opinion column published on the information site Atlantico (7th September), Jean-Marie Le Méné, chairman of the Jérôme Lejeune Foundation, attracts the intention on data related to the precocity of the diagnosis.

This will be able to be performed when the VTP is possible. As women do not have to justify it, the causes of these selective VTP will remain unknown, which is not the case today. This way, “the assassination of their memory will be added to the extermination of trisomic babies.

They will be victims of a silent and undetectable eugenics”. »